US Newborn Screening based on Economic Evaluations: Should Quality Matter?

Decisions to include a test in a newborn screening panel should be, as with all medical decisions, evaluated using evidence-based best practices. For screening panels, in addition to expert advice and ethical consideration, Prosser et al (2012) posit that under evidence-based best practices, newborn screening [for genetic disorders] would be based on sound cost-effectiveness analysis. The number of cost-effectiveness analyses has been increasing exponentially, with over 4000 in 2014, although a much fewer number look specifically at newborn screening (PubMed, 2014). In order to ensure that the analysis in question is sound, the cost-effectiveness analysis should be performed on the population that would be receiving the test, both ethnically and geographically (Goeree, 2006). However, many of the cost-effectiveness analyses of disorders included in the various state newborn screening panels are not based on the populations that they are screening. For example, there are only a handful of cost-effectiveness analyses for MCHAD, a disorder which is included in every state newborn screening panel, many of which are based on data from outside the United States or within only a specific state. The assumptions about what the testing costs, what the prevalence of the disorder is, and what the cost of the disorder if left untreated vary widely between studies (Goeree, 2006). This leads to difficulties in transferring the data included in the previous studies to new cost-effectiveness analyses, especially when considering the inclusion of an additional disorder to the panel. The current recommendations, based largely on a 2006 report by the American College of Medical Geneticists which included only the most basic of cost analyses, one that would not be considered, by modern standards, a cost-effectiveness analysis at all (Drummond et al, 1997).  In this current study, we discuss the current state of the literature with regards to cost-effectiveness of the various disorders included in newborn genetic screening, paired with a structured analysis of the quality of the economic evaluations that have been performed. We discuss guidelines for future cost-effectiveness analyses, based in part on similar recommendations in the EU, but tailored for the US health care system and population. Finally, we discuss the ethics of choosing inclusion, or exclusion, of various disorders from newborn screening based on the quality of the evidence used to support these choices.